Objective: Clinically validated biomarkers for neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2),
and schwannomatosis (SWN) have not been identified to date. The biomarker working group’s goals
are to (1) define biomarker needs in NF1, NF2, and SWN; (2) summarize existing data on biomarkers
in NF1, NF2, and SWN; (3) outline recommendations for sample collection and biomarker development;
and (4) standardize sample collection and methodology protocols where possible to promote
comparison between studies by publishing standard operating procedures (SOPs).
Methods: The biomarker group reviewed published data on biomarkers in NF1, NF2, and SWN and
on biobanking efforts outside these diseases via literature search, defined the need for biomarkers
in NF, and developed recommendations in a series of consensus meetings.
Results: We describe existing biomarkers in NF and report consensus recommendations for SOP
and a minimal clinical dataset to accompany samples derived from patients with NF1, NF2, and
SWN in decentralized biobanks.
Conclusions: These recommendations are intended to provide clinicians and researchers with
a common set of guidelines to collect and store biospecimens and for establishment of biobanks
for NF1, NF2, and SWN.